Canonical Allele Identifier: CA2585785526

Gene: ERCC2

Linked Data

• gnomAD v4: 19-45352429-CACCTGGGAAATGAACGGGAAACAGCCTGGTTCTTGGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352430_45352466del , CM000681.2:g.45352430_45352466del	GRCh38
NC_000019.9:g.45855688_45855724del , CM000681.1:g.45855688_45855724del	GRCh37
NC_000019.8:g.50547528_50547564del	NCBI36
NG_007067.2:g.23122_23158del , LRG_461:g.23122_23158del

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.2046+40_2046+76del	ENSP00000375808.4:n.2046+40_2046+76del
ENST00000682414.1:c.2046+40_2046+76del	ENSP00000507019.1:n.2046+40_2046+76del
ENST00000682508.1:n.2075+40_2075+76del
ENST00000684218.1:c.*1304+40_*1304+76del	ENSP00000507804.1:n.*1304+40_*1304+76del
ENST00000684264.1:n.1602+40_1602+76del
ENST00000684407.1:c.1923+40_1923+76del	ENSP00000507775.1:n.1923+40_1923+76del
ENST00000684458.1:c.*532+40_*532+76del	ENSP00000508260.1:n.*532+40_*532+76del
ENST00000684468.1:n.1758+40_1758+76del
ENST00000391945.10:c.2046+40_2046+76del MANE Select	ENSP00000375809.4:n.2046+40_2046+76del
ENST00000646507.1:n.2143+40_2143+76del
ENST00000391941.6:c.1974+40_1974+76del	ENSP00000375805.2:n.1974+40_1974+76del
ENST00000391942.6:n.1217+40_1217+76del
ENST00000391944.7:c.1812+40_1812+76del	ENSP00000375808.3:n.1812+40_1812+76del
ENST00000391945.8:c.2046+40_2046+76del	ENSP00000375809.3:n.2046+40_2046+76del
ENST00000588652.5:n.2134+40_2134+76del
NM_000400.3:c.2046+40_2046+76del , LRG_461t1:c.2046+40_2046+76del	NP_000391.1:n.2046+40_2046+76del
XM_011526611.1:c.1968+40_1968+76del	XP_011524913.1:n.1968+40_1968+76del
XM_011526611.2:c.1968+40_1968+76del	XP_011524913.1:n.1968+40_1968+76del
XM_017026467.1:c.1923+40_1923+76del	XP_016881956.1:n.1923+40_1923+76del
XR_001753633.2:n.2093+40_2093+76del
XR_001753634.2:n.2029+40_2029+76del
NM_000400.4:c.2046+40_2046+76del MANE Select	NP_000391.1:n.2046+40_2046+76del